rs61130669

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs61130669(G;T)

Make rs61130669(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

219421511

Gene

DES

is a	snp
is	mentioned by
dbSNP	rs61130669
dbSNP (classic)	rs61130669
ClinGen	rs61130669
ebi	rs61130669
HLI	rs61130669
Exac	rs61130669
Gnomad	rs61130669
Varsome	rs61130669
LitVar	rs61130669
Map	rs61130669
PheGenI	rs61130669
Biobank	rs61130669
1000 genomes	rs61130669
hgdp	rs61130669
ensembl	rs61130669
geneview	rs61130669
scholar	rs61130669
google	rs61130669
pharmgkb	rs61130669
gwascentral	rs61130669
openSNP	rs61130669
23andMe	rs61130669
SNPshot	rs61130669
SNPdbe	rs61130669
MSV3d	rs61130669
GWAS Ctlg	rs61130669

Max Magnitude

0

ClinVar
Risk	rs61130669(T;T)
Alt	rs61130669(T;T)
Reference	Rs61130669(G;G)
Significance	Probable-Pathogenic
Disease	not provided Myofibrillar myopathy 1
Variation	info
Gene	DES
CLNDBN	not provided Myofibrillar myopathy 1
Reversed	0
HGVS	NC_000002.11:g.220286233G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000056779.1, RCV000449603.1,